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目的应用多重探针扩增技术(multiplex ligation-dependent probe amplication,MLPA)探索自然流产与染色体数目异常的关系,并与常规经典染色体核型分析相比较,以此来评估其应用价值。方法对105例自然流产胎儿绒毛组织进行MLPA检测,PCR产物用3130基因分析仪进行信号收集,应用Coffalyzer对电泳结果进行片段分析;同时对所有标本进行细胞核型分析验证。结果 105例标本中有101例检测成功(97.1%),提示有43例为染色体核型异常,其中24例45,X,4例47,+21,2例47,+18,9例47,XXY,4例47,+13,总的异常检出率为42.6%;经细胞培养核型分析,有73例培养成功(69.5%),培养成功率与MLPA检测成功率差异显著(P<0.05);核型结果中有71例与MLPA的结果相符,MLPA检测敏感度为94.2%,特异性为74.0%。结论 MLPA在对流产绒毛染色体非整倍体检测的成功率比细胞培养的成功率要高,且对染色体异常检测的敏感度为94.2%,特异性为74.0%,相较于传统的细胞培养,可有效、快速的检测用于流产病因的检查工作。
Objective To explore the relationship between spontaneous abortion and chromosomal abnormalities by multiplex ligation-dependent probe amplication (MLPA), and to evaluate the value of its application compared with conventional classical karyotype analysis. Methods MLPA was performed on 105 cases of spontaneous abortion fetal villi. The PCR products were collected by 3130 gene analyzer. The Coffalyzer was used to analyze the electrophoresis results. At the same time, karyotype analysis was performed on all samples. Results Of the 105 samples, 101 were detected successfully (97.1%), suggesting that 43 cases were chromosomal abnormalities, of which 24 cases were 45, X, 4 cases 47, +21, 2 cases 47, +18, 9 cases 47, XXY, 4 cases 47, +13, the total abnormal detection rate was 42.6%; 73 cases were successfully cultured (69.5%) by cell culture karyotype analysis, the success rate of culture was significantly different from that of MLPA (P <0.05 ). There were 71 karyotype results in agreement with the results of MLPA. The MLPA detection sensitivity was 94.2% and the specificity was 74.0%. Conclusion The success rate of MLPA in detecting aneuploidy of abortion chorionic villi is higher than that of cell culture, and the sensitivity and specificity of MLPA for detection of chromosomal abnormalities are 94.2% and 74.0% respectively. Compared with traditional cell culture, Can be effective and rapid testing for the etiology of abortion inspection.